Síndrome de Urbach-Wiethe: relato de caso

Fonseca, Ellen Carrara; Fendi, Lígia Issa De; Andretta, Paulo Sérgio; Martin, Rosana Teresa Alves Lois; Ottaiano, José Augusto Alves

doi:10.1590/s0004-27492007000400021

Cited by 2 publications

(3 citation statements)

References 13 publications

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“…As far as we could elicit from the literature, these manifestations may fall into two major groups: (1) common findings described in most patients and (2) rare findings reported in a single or few cases. Generally, involvement of different parts of the eye such as cornea, conjunctiva, sclera, trabecular meshwork, pupil/iris, lens/zonular fibers, retina, and nasolacrimal duct is reported [7, 12, 14, 15, 17, 18]. In spite of the diversity of these manifestations, limited theories have been put forward to explain their aetiology [15–17].…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

“…Some authors, however, believed that these lesions “are hardly of any clinical significance” [6]. Apart from the diagnostic value, lid lesions are reported to accompany infiltration of glands of Zeiss, Moll, and Meibomian [7] and consequently cause madarosis, trichiasis, and sometimes distichiasis [15, 18]. Hewson [24] presented a male UWS case with ulceration of the right cornea caused by trichiasis.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

“…Pathophysiology of this multisystem disorder mostly includes deposition of hyaline-like material in the body with a ubiquitous pattern that, however, may vary from individual to individual. The most involved parts are viscera, mucosa, vocal cords, and skin [3–7, 10]. …”

Section: Introductionmentioning

confidence: 99%

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Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis

Abtahi

Kianersi

Abtahi

et al. 2012

Case Reports in Medicine

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Patients suffering from Urbach-Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae, may have an ophthalmologist involved in the diagnosis and management of their disease. Along with moniliform blepharosis as a pathognomonic feature of the disease, an ophthalmologist may encounter other manifestations of UWS in any part of the eye such as cornea; conjunctiva; sclera; trabecular meshwork; iris/pupil; lens and zonular fibers; retina; nasolacrimal duct. This paper provides a review on the pathogenesis and the diverse ocular manifestations seen in UWS patients. Uncommon complications are discussed in this paper (glaucoma; dry eye and epiphora; complications of lens, retina, cornea; iris/pupil and conjunctiva). Moreover, a 27-year-old male UWS patient is described with bilateral diffuse anterior stromal iris atrophy, diffuse keratic precipitates; posterior subcapsular cataract; 1 + vitreous cell in anterior vitreous examination. This case was thought to be the first instance of bilateral uveitis associated with UWS. Overall, ophthalmologists may encounter diverse ocular complications accompanying this syndrome. They should be familiar with well-established ophthalmologic manifestations leading them to cooperate with other specialists in diagnosis and management of the disease.

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Section: Discussion and Literature Reviewmentioning

confidence: 99%

Section: Discussion and Literature Reviewmentioning

confidence: 99%

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Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis

Abtahi

Kianersi

Abtahi

et al. 2012

Case Reports in Medicine

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Lipoid Proteinosis: A Rare Disease In Pediatric Dentistry

et al. 2020

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Abstract This report describes the diagnostic process of a rare disorder in a Brazilian female child. The patient presented initially as a 7-year-old with multiple whitish submucosal nodules of a fibrous consistency in the lower lip, but with an inconclusive pathology report. When she turned 9 years of age, she presented with exacerbation of the original clinical findings, which then involved the upper lip, buccal mucosa, tongue and lingual frenulum. In addition, dermatological lesions were noted on the child’s limbs and face, as well as a hoarse voice. Histopathological examination of the buccal mucosa revealed dense connective tissue with hyaline foci, which were positive with periodic acid-Schiff (PAS) staining and resistant to diastase digestion. Clinical and histopathological findings led to the diagnosis of a rare genetic disease with fewer than 300 reported cases - lipoid proteinosis. Magnetic resonance imaging revealed calcium deposits in her amygdaloid region of the brain, and nasopharyngolaryngoscopy revealed lesions in her vocal cords. The patient currently is stable and under multidisciplinary follow-up, but no treatment has been recommended to date.

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Síndrome de Urbach-Wiethe: relato de caso

Cited by 2 publications

References 13 publications

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis

Lipoid Proteinosis: A Rare Disease In Pediatric Dentistry

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